Gene
NFU1
NFU1 iron-sulfur cluster scaffold
- HGNC 16287↗(opens in a new tab)
- Ensembl gene ENSG00000169599↗(opens in a new tab)
- NCBI Gene 27247↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p13.3
- Coordinates
- Chromosome 2: 69,396,126–69,437,435 (GRCh38)
- Exons
- 8 exons across 41.3 kb
- Protein
- 254 amino acids
- Also known as
- CGI-33, NifU, NIFUC
- Previous symbols
- HIRIP5
- MANE Select transcript
- ENST00000410022.7NM_001002755.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads NFU1 yet. The test sequences your whole genome, so your data includes it all the same.
How NFU1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.9 kb of the gene's 41.3 kb; 765 of those bases code for the protein.
How a genome test reads NFU1
10
positions in NFU1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 41.3 kb of NFU1, introns included, not only the 0.9 kb of exons.
Traits linked to NFU1
The Human Phenotype Ontology lists these as features of the rare conditions NFU1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Abnormality of extrapyramidal motor function
- Clonus
- Corpus callosum atrophy
- Delayed ability to walk
- Elevated brain choline level by MRS
- Elevated brain lactate level by MRS
- Generalized-onset seizure
Show 21 more traits
- Jerking
- Leg paralysis
- Lethargy
- Leukoencephalopathy
- Loss of ability to walk
- Motor regression
- Numbness
- Reduced brain N-acetyl aspartate level by MRS
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Brisk reflexes
- Encephalopathy
- Global developmental delay
- Knee clonus
- Loss of developmental milestones
- Reduced cerebral white matter volume
- Underdevelopment of part of brain called corpus callosum
- Babinski sign
- Epilepsy
- Peripheral demyelination
- Peripheral neuropathy
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NFU1 gene: NFU1 iron-sulfur cluster scaffold. Retrieved 17 October 2026, from https://dantelabs.com/genes/nfu1
Dante Labs. NFU1 gene: NFU1 iron-sulfur cluster scaffold [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nfu1
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